Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

Cross-Disorder Group of the Psychiatric Genomics Consortium, Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI, Ripke S, Santangelo S, Sullivan PF: Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381:1371-1379, 2013 (Erratum in: 381:1360, 2013). PMID 23453885. PMC3714010.

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, …, Arnold S, et al: Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. PLoS One May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519, 2013. PMID 23671607. PMC3646051.

Effects of rare and common blood pressure gene variants on essential hypertension: Results from the FBPP, CLUE and ARIC studies.

Nguyen KD, Pihur V, Ganesh SK, Rakha A, Cooper RS, Hunt SC, Freeman BI, Coresh J, Kao LW, Morrison A, Boerwinkle E, Ehret GB, Chakravarti A: Effects of rare and common blood pressure gene variants on essential hypertension: Results from the FBPP, CLUE and ARIC studies. Circ Res 112:318- 326, 2013. PMID 23149595. PMC3548950.

Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency.

Sosa M, Sivakumar IKA, Maragh S, Veeramachanen V, Hariharan R, Parulekar M, Fredrikson KM, Harkins TT, Lin J, Feldman A, Tata P, Ehret G, Chakravarti A: Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency. PLoS Comp Biol 8:e1002737, 2012. PMID 23133345. PMC3486893.

An integrated map of genetic variation from 1,092 human genomes.

1000 Genomes Project Consortium: An integrated map of genetic variation from 1,092 human genomes. Nature 491:55-65, 2012. PMID 23128226. PMC3498066.

Meta-analysis identifies six new susceptibility loci for atrial fibrillation.

Ellinor PT, Lunetta KL, Albert CM, Glazer NL, Ritchie MD, Smith AV, Arking DE, Müller- Nurasyid M, Krijthe BP, Lubitz SA, Bis JC, Chung MK, Dörr M, Ozaki K, Roberts JD, Smith JG, Pfeufer A, Sinner MF, Lohman K, Ding J, Smith NL, Smith JD, Rienstra M, Rice KM, Van Wagoner DR, Magnani JW, Wakili R, Clauss S, Rotter JI, Steinbeck G, Launer LJ, Davies RW, Borkovich M, Harris TB, Lin H, Völker U, Völzke H, Milan DJ, Hofman A, Boerwinkle E, Chen LY, Soliman EZ, Voight BF, Li G, Chakravarti A, Kubo M, Tedrow UB, Rose LM, Ridker PM, Conen D, Tsunoda T, Furukawa T, Sotoodehnia N, Xu S, Kamatani N, Levy D, Nakamura Y, Parvez B, Mahida S, Furie KL, Rosand J, Muhammad R, Psaty BM, Meitinger T, Perz S, Wichmann HE, Witteman JC, Kao WH, Kathiresan S, Roden DM, Uitterlinden AG, Rivadeneira F, McKnight B, Sjögren M, Newman AB, Liu Y, Gollob MH, Melander O, Tanaka T, Stricker BH, Felix SB, Alonso A, Darbar D, Barnard J, Chasman DI, Heckbert SR, Benjamin EJ, Gudnason V, Kääb S: Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet 44:670-675, 2012. PMID 22544366. PMC3366038.

The 1000 Genomes Project: data management and community access.

Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P, 1000 Genomes Project Consortium: The 1000 Genomes Project: data management and community access. Nat Methods 9:459-462, 2012. PMID 22543379. PMC3340611.

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Jiang Q, Turner T, Sosa M, Rakha A, Arnold S, Chakravarti A: Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum Mutat 33:281-289, 2012. PMID 21898659. PMC3240684.

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.

Amin N, Byrne E, Johnson J, Chenevix-Trench G, Walter S, Nolte IM; kConFab Investigators, Vink JM, Rawal R, Mangino M, Teumer A, Keers JC, Verwoert G, Baumeister S, Biffar R, Petersmann A, Dahmen N, Doering A, Isaacs A, Broer L, Wray NR, Montgomery GW, Levy D, Psaty BM, Gudnason V, Chakravarti A, Sulem P, Gudbjartsson DF, Kiemeney LA, Thorsteinsdottir U, Stefansson K, van Rooij FJ, Aulchenko YS, Hottenga JJ, Rivadeneira FR, Hofman A, Uitterlinden AG, Hammond CJ, Shin SY, Ikram A, Witteman JC, Janssens AC, Snieder H, Tiemeier H, Wolfenbuttel BH, Oostra BA, Heath AC, Wichmann E, Spector TD, Grabe HJ, Boomsma DI, Martin NG, van Duijn CM: Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psych 17:1116-1129, 2012. PMID 21876539. PMC3482684.

SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of quantitative phenotypes for hypertension.

Won J-H, Ehret G, Chakravarti A, Olshen RA: SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of quantitative phenotypes for hypertension. PLoS One 6:e27891, 2011. PMID 22140480. PMC3227593.